Canonical Allele Identifier: CA2579810312

Gene: CBS

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43056804_43056806delinsAAC , CM000683.2:g.43056804_43056806delinsAAC	GRCh38
NG_008938.1:g.24125_24127delinsGTT , LRG_777:g.24125_24127delinsGTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000398165.8:c.1549_1551delinsGTT MANE Select	ENSP00000381231.4:p.Gln517Val
ENST00000352178.9:c.1549_1551delinsGTT	ENSP00000344460.5:p.Gln517Val
ENST00000359624.7:c.1549_1551delinsGTT	ENSP00000352643.3:p.Gln517Val
ENST00000398158.5:c.1549_1551delinsGTT	ENSP00000381225.1:p.Gln517Val
ENST00000398165.7:c.1549_1551delinsGTT	ENSP00000381231.3:p.Gln517Val
ENST00000430013.1:c.510_512delinsGTT
ENST00000451248.5:c.299_301delinsGTT
ENST00000458223.5:c.312_314delinsGTT
ENST00000461686.5:n.1860_1862delinsGTT
ENST00000462349.5:n.840_842delinsGTT
ENST00000491776.1:n.484_486delinsGTT
NM_000071.2:c.1549_1551delinsGTT , LRG_777t1:c.1549_1551delinsGTT	NP_000062.1:p.Gln517Val
NM_001178008.1:c.1549_1551delinsGTT	NP_001171479.1:p.Gln517Val
NM_001178009.1:c.1549_1551delinsGTT	NP_001171480.1:p.Gln517Val
XM_011529773.1:c.1600_1602delinsGTT	XP_011528075.1:p.Gln534Val
XM_011529774.1:c.1600_1602delinsGTT	XP_011528076.1:p.Gln534Val
XM_011529775.1:c.1600_1602delinsGTT	XP_011528077.1:p.Gln534Val
XM_011529776.1:c.1600_1602delinsGTT	XP_011528078.1:p.Gln534Val
XM_011529777.1:c.1549_1551delinsGTT	XP_011528079.1:p.Gln517Val
XM_011529778.1:c.1549_1551delinsGTT	XP_011528080.1:p.Gln517Val
XM_011529779.1:c.1549_1551delinsGTT	XP_011528081.1:p.Gln517Val
XM_011529781.1:c.1549_1551delinsGTT	XP_011528083.1:p.Gln517Val
XM_011529782.1:c.1549_1551delinsGTT	XP_011528084.1:p.Gln517Val
XM_011529783.1:c.1234_1236delinsGTT	XP_011528085.1:p.Gln412Val
XM_011529784.1:c.1234_1236delinsGTT	XP_011528086.1:p.Gln412Val
NM_001178008.2:c.1549_1551delinsGTT	NP_001171479.1:p.Gln517Val
NM_001178009.2:c.1549_1551delinsGTT	NP_001171480.1:p.Gln517Val
NM_001320298.1:c.1549_1551delinsGTT	NP_001307227.1:p.Gln517Val
NM_001321072.1:c.1234_1236delinsGTT	NP_001308001.1:p.Gln412Val
XM_011529774.2:c.1600_1602delinsGTT	XP_011528076.1:p.Gln534Val
XM_011529777.2:c.1549_1551delinsGTT	XP_011528079.1:p.Gln517Val
XM_011529783.2:c.1234_1236delinsGTT	XP_011528085.1:p.Gln412Val
XM_017028491.2:c.1549_1551delinsGTT	XP_016883980.1:p.Gln517Val
XM_024452136.1:c.1600_1602delinsGTT	XP_024307904.1:p.Gln534Val
XM_024452137.1:c.1600_1602delinsGTT	XP_024307905.1:p.Gln534Val
XM_024452138.1:c.1234_1236delinsGTT	XP_024307906.1:p.Gln412Val
XM_024452139.1:c.1234_1236delinsGTT	XP_024307907.1:p.Gln412Val
XM_024452140.1:c.1234_1236delinsGTT	XP_024307908.1:p.Gln412Val
XR_001754915.1:n.1928_1930delinsGTT
XR_001754916.2:n.1853_1855delinsGTT
XR_001754917.2:n.1853_1855delinsGTT
XR_002958634.1:n.2528_2530delinsGTT
NM_000071.3:c.1549_1551delinsGTT MANE Select	NP_000062.1:p.Gln517Val
NM_001178009.3:c.1549_1551delinsGTT	NP_001171480.1:p.Gln517Val
NM_001178008.3:c.1549_1551delinsGTT	NP_001171479.1:p.Gln517Val
NM_001320298.2:c.1549_1551delinsGTT	NP_001307227.1:p.Gln517Val